Related references
Note: Only part of the references are listed.Hepatocerebral form of mitochondrial DNA depletion syndrome
Antonella Spinazzola et al.
ARCHIVES OF NEUROLOGY (2008)
Localization in stereocilia, plasma membrane, and mitochondria suggests diverse roles for NMHC-IIa within cochlear hair cells
Anil K. Lalwani et al.
BRAIN RESEARCH (2008)
Mitochondrial gene expression is regulated at multiple levels and differentially in the heart and liver by thyroid hormones
Erika Fernandez-Vizarra et al.
CURRENT GENETICS (2008)
Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets
L. M. Cree et al.
DIABETOLOGIA (2008)
Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice
Xiaoshan Zhou et al.
HUMAN MOLECULAR GENETICS (2008)
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance
Hasan O. Akman et al.
HUMAN MOLECULAR GENETICS (2008)
Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene:: Description of an alternative MPV17 spliced form
Aleix Navarro-Sastre et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians
Antonella Spinazzola et al.
NEUROMUSCULAR DISORDERS (2008)
Transcriptional paradigms in mammalian mitochondrial biogenesis and function
Richard C. Scarpulla
PHYSIOLOGICAL REVIEWS (2008)
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies
Luciano Merlini et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Inherited diseases of the glomerular basement membrane
Marie Claire Gubler
NATURE CLINICAL PRACTICE NEPHROLOGY (2008)
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
Emmanuelle Sarzi et al.
ANNALS OF NEUROLOGY (2007)
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
Anna H. Hakonen et al.
BRAIN (2007)
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
Lee-Jun C. Wong et al.
HEPATOLOGY (2007)
Deficiency of the a subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion
Elsebet Ostergaard et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
MTERF3 is a negative regulator of mammalian mtDNA transcription
Chan Bae Park et al.
CELL (2007)
Disorders of nuclear-mitochondrial intergenomic communication
Antonella Spinazzola et al.
BIOSCIENCE REPORTS (2007)
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
Alice Bourdon et al.
NATURE GENETICS (2007)
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood
Emmanuelle Sarzi et al.
JOURNAL OF PEDIATRICS (2007)
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins
Alessia Angelin et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene
Charalampos L. Karadimas et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
A Spinazzola et al.
NATURE GENETICS (2006)
Mitochondrial dysfunction in focal segmental glomerulosclerosis of puromycin aminonucleoside nephrosis
M Hagiwara et al.
KIDNEY INTERNATIONAL (2006)
Nuclear control of respiratory gene expression in mammalian cells
RC Scarpulla
JOURNAL OF CELLULAR BIOCHEMISTRY (2006)
Indispensable role of Bcl2 in the development of the melanocyte stem cell
SS Mak et al.
DEVELOPMENTAL BIOLOGY (2006)
Termination factor-mediated DNA loop between termination and initiation sites drives mitochondrial rRNA synthesis
M Martin et al.
CELL (2005)
Abnormal basement membrane in the inner ear and the kidney of the Mpv17-/- mouse strain: ultrastructural and immunohistochemical investigations
AMM zum Gottesberge et al.
HISTOCHEMISTRY AND CELL BIOLOGY (2005)
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
O Elpeleg et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Quantitative change in mitochondrial DNA content in various mouse tissues during aging
M Masuyama et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2005)
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency -: art. no. e28
M Bugiani et al.
JOURNAL OF MEDICAL GENETICS (2005)
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA
G Ferrari et al.
BRAIN (2005)
Mechanisms of hair graying: Incomplete melanocyte stem cell maintenance in the niche
EK Nishimura et al.
SCIENCE (2005)
Control of mitochondrial transcription specificity factors (TFB1M and TFB2M) by nuclear respiratory factors (NRF-1 and NRF-2) and PGC-1 family coactivators
N Gleyzer et al.
MOLECULAR AND CELLULAR BIOLOGY (2005)
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
RK Naviaux et al.
ANNALS OF NEUROLOGY (2004)
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
WA Irwin et al.
NATURE GENETICS (2003)
Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools
T Kimura et al.
NATURE GENETICS (2003)
Isolation of biogenetically competent mitochondria from mammalian tissues and cultured cells
E Fernández-Vizarra et al.
METHODS (2002)
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
A Saada et al.
NATURE GENETICS (2001)
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
H Mandel et al.
NATURE GENETICS (2001)
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes
KE Heath et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
The hepatic mitochondrial DNA depletion syndrome: Ultrastructural changes in liver biopsies
H Mandel et al.
HEPATOLOGY (2001)
Late-onset mitochondrial DNA depletion:: DNA copy number, multiple deletions, and compensation
C Barthélémy et al.
ANNALS OF NEUROLOGY (2001)
Graying: gerontobiology of the hair follicle pigmentary unit
DJ Tobin et al.
EXPERIMENTAL GERONTOLOGY (2001)
Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes
K Inoue et al.
NATURE GENETICS (2000)